Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients

INTRODUCTION: Abnormality in HBB results in an inherited recessive blood disorder, which can be caused by variants at the transcriptional or translational level affecting the stability and the production of the HBB chain. The severity of the disease relies on the variant’s characteristics. This stud...

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Detalhes bibliográficos
Publicado no:Arch Med Sci
Main Authors: Aldakeel, Sumayh A., Ghanem, Neda Z., Al-Amodi, Amani M., Osman, Ahoud Khalid, Al Asoom, Lubna Ibrahim, Ahmed, Nazish Rafique, Almandil, Noor B., Akhtar, Mohammed Shakil, Azeez, Sayed Abdul, Borgio, J. Francis
Formato: Artigo
Idioma:Inglês
Publicado em: Termedia Publishing House 2019
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7069418/
https://ncbi.nlm.nih.gov/pubmed/32190157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5114/aoms.2019.84825
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